STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853077
rs137853077
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.810 GeneticVariation BEFREE Effects of Peutz-Jeghers syndrome (PJS) causing missense mutations L67P, L182P, G242V and R297S on the structural dynamics of LKB1 (Liver kinase B1) protein. 29447078 2019
dbSNP: rs1057520041
rs1057520041
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.710 GeneticVariation BEFREE Recent work has led to the identification of four mutants (R304W, I177N, K175-D176del, L263fsX286) and two novel aberrant LKB1/STK11 cDNA isoforms (r291-464del, r485-1283del) in a group of PJS Italian patients. 12552571 2003
dbSNP: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.710 GeneticVariation BEFREE We present four novel inactivating mutations identified by direct sequencing of all 9 exons of the STK11 gene in 4 patients suggestive of Peutz-Jeghers syndrome: three frameshift mutations (125-137del; 474-480del; 516-517insT) and one nonsense mutation (Q220X). 10090485 1999
dbSNP: rs137853083
rs137853083
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.710 GeneticVariation BEFREE Molecular analysis of the LKB1 gene in a simplex case of PJS revealed a substitution of cytosine (C) for guanine (G) at codon 246 in exon 6, resulting in the Tyr246X mutation. 15200509 2004
dbSNP: rs587776661
rs587776661
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.710 GeneticVariation BEFREE Effects of Peutz-Jeghers syndrome (PJS) causing missense mutations L67P, L182P, G242V and R297S on the structural dynamics of LKB1 (Liver kinase B1) protein. 29447078 2019
dbSNP: rs1458974438
rs1458974438
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.030 GeneticVariation BEFREE Here in Kras(G12D);Lkb1(lox/lox) (KL) mouse model, we reveal differential reactive oxygen species (ROS) levels in lung adenocarcinoma (ADC) and squamous cell carcinoma (SCC). 25936644 2015
dbSNP: rs1458974438
rs1458974438
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.030 GeneticVariation BEFREE Conversely, YAP deletion dramatically delayed the progression of lung ADC in LKB1-deficient Kras(G12D) mice. 26363011 2015
dbSNP: rs1458974438
rs1458974438
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.030 GeneticVariation BEFREE In Kras<sup>LSL-G12D/WT</sup>, Kras<sup>LSL-G12D/WT</sup>; Lkb1<sup>Flox/Flox</sup> and Kras<sup>LSL-G12D/WT</sup>; p53<sup>Flox/Flox</sup> mouse models of lung adenocarcinoma, we monitored an impaired progression of tumors upon RANKL blockade. 29223537 2018
dbSNP: rs137853081
rs137853081
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE A majority of the tumors harbored an IDH1 mutation (p.R132H in 3 tumors; p.R132C in 4 tumors from 2 patients; p.R132L and p.R132G in one tumor each). 31240473 2019
dbSNP: rs137853081
rs137853081
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE Two LKB1/STK11 mutations were found: a missense change (Y49D) accompanied by allele loss in a cell line; and a missense change (G135R), without a detected mutation in the other allele, in a primary tumor. 10201537 1999
dbSNP: rs8111699
rs8111699
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0085207
Disease:
Gestational Diabetes
0.020 GeneticVariation BEFREE Our study suggests that the rs8111699 polymorphism has no role in the development of GDM in pregnant Saudi women. 26345094 2015
dbSNP: rs8111699
rs8111699
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0085207
Disease:
Gestational Diabetes
0.020 GeneticVariation BEFREE In pregnant women, the G allele for the rs8111699 variant in STK11 is associated with a more favorable metabolic phenotype and may protect against the development of GDM, particularly in heavier women. 23706335 2013
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC. 25751324 2015
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0007137
Disease:
Squamous cell carcinoma
0.010 GeneticVariation BEFREE R86G (novel) and F354L mutations were found in six squamous cell carcinomas and three large cell cancer carcinomas, but not in the adjacent healthy tissue or controls samples. 19229701 2009
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C3839868
Disease:
Cytogenetically normal acute myeloid leukemia
0.010 GeneticVariation BEFREE Phe354Leu Polymorphism of <i>LKB1</i> Is a Potential Prognostic Factor for Cytogenetically Normal Acute Myeloid Leukemia. 28882949 2018
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC. 25751324 2015
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0346398
Disease:
Mixed follicular and papillary thyroid carcinoma
0.010 GeneticVariation BEFREE Identification of Unique, Heterozygous Germline Mutation, STK11 (p.F354L), in a Child with an Encapsulated Follicular Variant of Papillary Thyroid Carcinoma within Six Months of Completing Treatment for Neuroblastoma. 25751324 2015
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC. 25751324 2015
dbSNP: rs1057520039
rs1057520039
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0007137
Disease:
Squamous cell carcinoma
0.010 GeneticVariation BEFREE R86G (novel) and F354L mutations were found in six squamous cell carcinomas and three large cell cancer carcinomas, but not in the adjacent healthy tissue or controls samples. 19229701 2009
dbSNP: rs1057520039
rs1057520039
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0007097
Disease:
Carcinoma
0.010 GeneticVariation BEFREE R86G (novel) and F354L mutations were found in six squamous cell carcinomas and three large cell cancer carcinomas, but not in the adjacent healthy tissue or controls samples. 19229701 2009
dbSNP: rs1085307466
rs1085307466
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE We predict that this novel mutation, p.Q302X, is most likely responsible for development of the PJS phenotype and may even contribute to malignancy. 22168747 2011
dbSNP: rs1085307466
rs1085307466
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE We predict that this novel mutation, p.Q302X, is most likely responsible for development of the PJS phenotype and may even contribute to malignancy. 22168747 2011
dbSNP: rs1085307466
rs1085307466
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.010 GeneticVariation BEFREE We predict that this novel mutation, p.Q302X, is most likely responsible for development of the PJS phenotype and may even contribute to malignancy. 22168747 2011
dbSNP: rs12977689
rs12977689
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The carriers of minor allele A at rs12977689 had a higher risk of CAD compared to the homozygotes of CC (OR = 1.572, 95% CI = 1.039-2.376, <i>p</i> = 0.035), and the difference was still significant after adjustment for the other known CAD risk factors (OR' = 1.184, 95%  CI' = 1.036-1.353, <i>p</i>' = 0.013).<i>Conclusion</i>. 28349069 2017
dbSNP: rs137853080
rs137853080
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Two LKB1/STK11 mutations were found: a missense change (Y49D) accompanied by allele loss in a cell line; and a missense change (G135R), without a detected mutation in the other allele, in a primary tumor. 10201537 1999